I668V (p.Ile668Val) variant of PMS2 (P54278)
I668V (p.Ile668Val) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome 4; Mismatch repair cancer syndrome 4; Hereditary nonpolyposis col. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
I668V (p.Ile668Val) variant details
- p.Ile668Val
- rs869320619
- ClinGen CA358701
- ClinVar RCV000172908
- ClinVar RCV000630142
- Uncertain significance
- Lynch syndrome 4; Mismatch repair cancer syndrome 4; Hereditary nonpolyposis col
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.25
- MetaLR 0.23
- MetaSVM -0.77
- PolyPhen-2 0.57
- SIFT 0.19
- EVE 0.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. (PMID 25691505)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)