P30L (p.Pro30Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
P30L (p.Pro30Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs757892928
- ClinGen CA022507
- ClinVar RCV000164508
- ClinVar RCV000233615
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.82
- MetaSVM 0.64
- CADD 23.60
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TU population (allele frequency 0.1)
- 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: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)