V3A (p.Val3Ala) variant of MMAB (Q96EY8)
V3A (p.Val3Ala) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- TOPMed rs1884747870
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available