A10V (p.Ala10Val) variant of TRMU (O75648)
A10V (p.Ala10Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 22-46335793-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.62
- MetaSVM 0.56
- CADD 28.10
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available