L31P (p.Leu31Pro) variant of RAD51D (O75771)
L31P (p.Leu31Pro) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs2142477822
- ClinGen CA399092003
- ClinVar RCV002371538
- Ensembl rs2142477822
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.62
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)