A2T (p.Ala2Thr) variant of MMAB (Q96EY8)
A2T (p.Ala2Thr) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1157166932
- gnomAD rs1157166932
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available