Y54C (p.Tyr54Cys) variant of RAD51 (Q06609)
Y54C (p.Tyr54Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- rs769146109
- ClinGen CA7483928
- ClinVar RCV004516224
- ClinVar RCV005100432
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.44
- MetaLR 0.36
- MetaSVM -0.03
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)