N29S (p.Asn29Ser) variant of BMPR2 (Q13873)
N29S (p.Asn29Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- rs112862820
- ClinGen CA2061034
- ClinVar RCV000389962
- ClinVar RCV001507195
- Likely benign
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.28
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Pulmonary arterial hypertension)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.25)
- 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)