N25K (p.Asn25Lys) variant of BMPR1A (P36894)
N25K (p.Asn25Lys) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N25K (p.Asn25Lys) variant details
- p.Asn25Lys
- gnomAD 10-86890069-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available