A18T (p.Ala18Thr) variant of TRMU (O75648)
A18T (p.Ala18Thr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 22-46335816-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.41
- MetaSVM -0.17
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available