R13P (p.Arg13Pro) variant of RAD50 (DNA repair protein RAD50)
R13P (p.Arg13Pro) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- TOPMed rs1750020062
- gnomAD rs1750020062
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.70
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available