A3V (p.Ala3Val) variant of TRMU (O75648)
A3V (p.Ala3Val) in TRMU (O75648) 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1265502615
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.10
- ESM-1b 0.36
- AlphaMissense 0.11
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available