S49R (p.Ser49Arg) variant of BMPR2 (Q13873)
S49R (p.Ser49Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Primary pulmonary hypertension; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- rs150080314
- ClinGen CA2061042
- ClinVar RCV002151984
- ClinVar RCV004965779
- Conflicting interpretations
- not provided; Primary pulmonary hypertension; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.61
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (not provided; Primary pulmonary hypertension; Inborn genetic dis)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- 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)