S22T (p.Ser22Thr) variant of PMS2 (P54278)
S22T (p.Ser22Thr) in PMS2 (P54278) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- gnomAD rs1403470297
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.58
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available