V66I (p.Val66Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
V66I (p.Val66Ile) 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 0.40 / 1. The record also includes published literature and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- rs2139611483
- ClinGen CA390451371
- ClinVar RCV002045164
- ClinVar RCV004046040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.07
- MetaLR 0.36
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.52
- MutPred 0.46
- 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)