S33N (p.Ser33Asn) variant of MLH3 (DNA mismatch repair protein Mlh3)
S33N (p.Ser33Asn) 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 0.92 / 1. The record also includes published literature and structural context.
S33N (p.Ser33Asn) variant details
- p.Ser33Asn
- rs2139613635
- ClinGen CA390451612
- ClinVar RCV002045866
- ClinVar RCV004046770
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.94
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)