A11T (p.Ala11Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
A11T (p.Ala11Thr) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Colorectal cancer, hereditary nonpolyposis, type 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs2139615082
- ClinGen CA390451945
- ClinVar RCV001888471
- ClinVar RCV004041097
- Uncertain significance
- not specified; Colorectal cancer, hereditary nonpolyposis, type 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.12
- MetaLR 0.47
- MetaSVM -0.32
- PolyPhen-2 0.08
- SIFT 0.11
- MutPred 0.41
- ClinVar: Uncertain significance (not specified; Colorectal cancer, hereditary nonpolyposis, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)