A35D (p.Ala35Asp) variant of RAD51 (Q06609)
A35D (p.Ala35Asp) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- rs377571591
- ClinGen CA268838901
- ClinVar RCV002401013
- ESP rs377571591
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (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)