Q24L (p.Gln24Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q24L (p.Gln24Leu) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HNPCC7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- rs2139614337
- ClinGen CA390451755
- ClinVar RCV004055746
- Uncertain significance
- in HNPCC7
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.26
- MetaLR 0.33
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.55
- EBI: Variant of uncertain significance (in HNPCC7)
- UniProt: Uncertain significance (in HNPCC7)
- Structural context available