V23I (p.Val23Ile) variant of PMS2 (P54278)
V23I (p.Val23Ile) 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 0.84 / 1. The record also includes structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs374830220
- ClinGen CA366745126
- ClinVar RCV003028318
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.72
- MetaLR 0.83
- MetaSVM 0.80
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.82
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available