S21P (p.Ser21Pro) variant of MLH3 (DNA mismatch repair protein Mlh3)
S21P (p.Ser21Pro) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- rs1233254643
- ClinGen CA390451803
- ClinVar RCV001205058
- ClinVar RCV004033637
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.57
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)