S17R (p.Ser17Arg) variant of TRMU (O75648)
S17R (p.Ser17Arg) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- TOPMed rs2077956537
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available