V23G (p.Val23Gly) variant of PMS2 (P54278)
V23G (p.Val23Gly) 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 0.72 / 1. The record also includes structural context.
V23G (p.Val23Gly) variant details
- p.Val23Gly
- rs1060503114
- ClinGen CA16612157
- cosmic curated COSV10584
- ClinVar RCV002230426
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.81
- MetaLR 0.78
- MetaSVM 0.61
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available