K13T (p.Lys13Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
K13T (p.Lys13Thr) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- rs41294988
- ClinGen CA014649
- cosmic curated COSV99314
- ClinVar RCV000030274
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- MetaLR 0.64
- MetaSVM 0.29
- CADD 26.50
- PolyPhen-2 0.57
- SIFT 0.01
- EBI: Likely benign (in dbSNP:rs41294988)
- UniProt: Likely benign (in dbSNP:rs41294988)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal… (PMID 18033691)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)