T6P (p.Thr6Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
T6P (p.Thr6Pro) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T6P (p.Thr6Pro) variant details
- p.Thr6Pro
- rs200944853
- ClinGen CA068021
- ClinVar RCV000490967
- ClinVar RCV000549468
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.56
- MetaLR 0.69
- MetaSVM 0.47
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)