A2S (p.Ala2Ser) variant of MMAB (Q96EY8)
A2S (p.Ala2Ser) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- TOPMed rs1157166932
- gnomAD rs1157166932
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available