A42T (p.Ala42Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
A42T (p.Ala42Thr) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs748676497
- ClinGen CA7276093
- ClinVar RCV001119976
- ClinVar RCV004020769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.32
- AlphaMissense 0.28
- MetaLR 0.26
- MetaSVM -0.58
- CADD 25.70
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)