P12L (p.Pro12Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
P12L (p.Pro12Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs760603184
- ClinGen CA46687631
- ClinVar RCV000780472
- ClinVar RCV001856186
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.46
- MetaLR 0.42
- MetaSVM -0.52
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)