S17I (p.Ser17Ile) variant of TRMU (O75648)
S17I (p.Ser17Ile) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- gnomAD 22-46335814-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.07
- CADD 32.00
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Literature evidence available