R17S (p.Arg17Ser) variant of MMUT (P22033)
R17S (p.Arg17Ser) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD rs1446591628
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.25
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available