A23T (p.Ala23Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
A23T (p.Ala23Thr) in MSH6 (DNA mismatch repair protein Msh6) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs730881810
- ClinGen CA016226
- cosmic curated COSV52279
- ClinVar RCV000160706
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.04
- MetaLR 0.36
- MetaSVM -0.79
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.62
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)