S22N (p.Ser22Asn) variant of BMPR2 (Q13873)
S22N (p.Ser22Asn) in BMPR2 (Q13873) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs1227742705
- gnomAD rs1227742705
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available