A4S (p.Ala4Ser) variant of PMS2 (P54278)
A4S (p.Ala4Ser) 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 0.41 / 1. The record also includes structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs1786257764
- ClinGen CA366745240
- ClinVar RCV003045363
- Ensembl rs1786257764
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.08
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available