P56L (p.Pro56Leu) variant of RAD51 (Q06609)
P56L (p.Pro56Leu) 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 0.42 / 1. The record also includes published literature and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs1894963068
- ClinGen CA391746111
- ClinVar RCV002406002
- ClinVar RCV004534089
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.52
- MetaLR 0.31
- MetaSVM -0.50
- PolyPhen-2 0.10
- SIFT 0.02
- MutPred 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)