A3S (p.Ala3Ser) variant of TRMU (O75648)
A3S (p.Ala3Ser) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 22-46335771-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.91
- CADD 18.10
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available
- Literature evidence available