A21V (p.Ala21Val) variant of TRMU (O75648)
A21V (p.Ala21Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- TOPMed rs1303499860
- gnomAD rs1303499860
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available