S17N (p.Ser17Asn) variant of TRMU (O75648)
S17N (p.Ser17Asn) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD 22-46335814-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.07
- CADD 29.50
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available