H139Y (p.His139Tyr) variant of MMAB (Q96EY8)
H139Y (p.His139Tyr) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H139Y (p.His139Tyr) variant details
- p.His139Tyr
- gnomAD rs1190696935
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 26.20
- PolyPhen-2 0.58
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available