P12T (p.Pro12Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
P12T (p.Pro12Thr) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- rs587782084
- ClinGen CA013137
- ClinVar RCV000130582
- ClinVar RCV000484580
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.39
- MetaLR 0.43
- MetaSVM -0.27
- CADD 16.60
- PolyPhen-2 0.11
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)