H79L (p.His79Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
H79L (p.His79Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H79L (p.His79Leu) variant details
- p.His79Leu
- rs753528013
- ClinGen CA390451280
- ClinVar RCV001895447
- ClinVar RCV005601819
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.32
- CADD 6.80
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)