S6I (p.Ser6Ile) variant of PMS2 (P54278)
S6I (p.Ser6Ile) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- rs587781112
- ClinGen CA366745227
- ClinVar RCV001063055
- gnomAD rs587781112
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.62
- PolyPhen-2 0.09
- SIFT 0.02
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Benign
- UniProt: Benign
- Structural context available