A135V (p.Ala135Val) variant of MMAB (Q96EY8)
A135V (p.Ala135Val) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A135V (p.Ala135Val) variant details
- p.Ala135Val
- TOPMed rs1328998235
- gnomAD rs1328998235
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.79
- ESM-1b 0.11
- AlphaMissense 0.28
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available