A95V (p.Ala95Val) variant of MMAB (Q96EY8)
A95V (p.Ala95Val) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A95V (p.Ala95Val) variant details
- p.Ala95Val
- ExAC rs756445649
- gnomAD rs756445649
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available