V8A (p.Val8Ala) variant of TRMU (O75648)
V8A (p.Val8Ala) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 22-46335787-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.14
- MetaSVM -0.91
- CADD 23.40
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Literature evidence available