S7L (p.Ser7Leu) variant of PMS2 (P54278)
S7L (p.Ser7Leu) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- rs587780048
- ClinGen CA010809
- NCI-TCGA Cosmic COSV5614
- cosmic curated COSV56149
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.30
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)