A18S (p.Ala18Ser) variant of TRMU (O75648)
A18S (p.Ala18Ser) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 22-46335816-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -0.90
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available