A79V (p.Ala79Val) variant of RAD51 (Q06609)
A79V (p.Ala79Val) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- rs146489542
- ClinGen CA7483962
- ClinVar RCV003044243
- ClinVar RCV004960923
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)