Q24R (p.Gln24Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q24R (p.Gln24Arg) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs2139614337
- ClinGen CA390451751
- ClinVar RCV002023062
- ClinVar RCV004641888
- Uncertain significance
- in HNPCC7
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.47
- AlphaMissense 0.26
- MetaLR 0.33
- MetaSVM -0.39
- CADD 25.70
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance (in HNPCC7)
- UniProt: Uncertain significance (in HNPCC7)
- 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)