L56V (p.Leu56Val) variant of BMPR1A (P36894)
L56V (p.Leu56Val) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- gnomAD 10-86890160-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- CADD 14.70
- PolyPhen-2 0.02
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available