S22P (p.Ser22Pro) variant of MMUT (P22033)
S22P (p.Ser22Pro) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- ExAC rs747378116
- gnomAD rs747378116
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.28
- CADD 10.50
- PolyPhen-2 0.13
- SIFT 0.19
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available