T14A (p.Thr14Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
T14A (p.Thr14Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- rs2125693873
- ClinGen CA352060615
- ClinVar RCV001867360
- Ensembl rs2125693873
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- ESM-1b 0.00
- AlphaMissense 0.07
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available