N46S (p.Asn46Ser) variant of BMPR1A (P36894)
N46S (p.Asn46Ser) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- Ensembl rs1589763371
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available