N57S (p.Asn57Ser) variant of MLH3 (DNA mismatch repair protein Mlh3)
N57S (p.Asn57Ser) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- rs376748258
- ClinGen CA263654093
- ClinVar RCV003774469
- ClinVar RCV004060561
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.87
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)