S20N (p.Ser20Asn) variant of MLH3 (DNA mismatch repair protein Mlh3)
S20N (p.Ser20Asn) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- rs1269145505
- ClinGen CA390451825
- ClinVar RCV001204280
- ClinVar RCV004033609
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0478
- REVEL 0.01
- CADD 3.51
- PolyPhen-2 0.01
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)