H126D (p.His126Asp) variant of VSIR (Q9H7M9)
H126D (p.His126Asp) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H126D (p.His126Asp) variant details
- p.His126Asp
- ExAC rs767970601
- gnomAD rs767970601
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- CADD 27.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available