N34T (p.Asn34Thr) variant of RAD51 (Q06609)
N34T (p.Asn34Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N34T (p.Asn34Thr) variant details
- p.Asn34Thr
- rs751379027
- ClinGen CA7483916
- ClinVar RCV004445422
- ClinVar RCV006564760
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.69
- 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)