S33G (p.Ser33Gly) variant of MLH3 (DNA mismatch repair protein Mlh3)
S33G (p.Ser33Gly) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S33G (p.Ser33Gly) variant details
- p.Ser33Gly
- rs770219274
- ClinGen CA7276096
- ClinVar RCV002025108
- ExAC rs770219274
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)