A20V (p.Ala20Val) variant of TRMU (O75648)
A20V (p.Ala20Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 22-46335823-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.39
- MetaSVM -0.19
- CADD 28.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available