S61L (p.Ser61Leu) variant of BMPR2 (Q13873)
S61L (p.Ser61Leu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Primary pulmonary hypertension; Pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S61L (p.Ser61Leu) variant details
- p.Ser61Leu
- rs1166280962
- ClinGen CA350399344
- ClinVar RCV003050521
- ClinVar RCV005028142
- Conflicting interpretations
- Inborn genetic diseases; Primary pulmonary hypertension; Pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.43
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Primary pulmonary hypertension; Pulmona)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)