S6T (p.Ser6Thr) variant of PMS2 (P54278)
S6T (p.Ser6Thr) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- rs587781112
- ClinGen CA010279
- ClinVar RCV000127469
- ClinVar RCV003593914
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.62
- CADD 3.31
- PolyPhen-2 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available