R44S (p.Arg44Ser) variant of MLH3 (DNA mismatch repair protein Mlh3)
R44S (p.Arg44Ser) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- rs752498783
- ClinGen CA7276089
- ClinVar RCV003338082
- ExAC rs752498783
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.88
- MetaLR 0.21
- MetaSVM -0.83
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.61
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)