S27L (p.Ser27Leu) variant of BMPR2 (Q13873)
S27L (p.Ser27Leu) 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; Pulmonary hypertension, primary, 1; Pulmonary venoocclu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- rs573463511
- ClinGen CA2061031
- cosmic curated COSV10100
- ClinVar RCV003072388
- Conflicting interpretations
- Inborn genetic diseases; Pulmonary hypertension, primary, 1; Pulmonary venoocclu
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Pulmonary hypertension, primary, 1; Pul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)