G12A (p.Gly12Ala) variant of RRAD (GTP-binding protein RAD)
G12A (p.Gly12Ala) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs758327096
- ClinGen CA8098094
- ClinVar RCV004099577
- ExAC rs758327096
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.20
- PolyPhen-2 0.91
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available