H31Y (p.His31Tyr) variant of BMPR1A (P36894)
H31Y (p.His31Tyr) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- gnomAD 10-86890085-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.35
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available