S8G (p.Ser8Gly) variant of RRAD (GTP-binding protein RAD)
S8G (p.Ser8Gly) 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 0.10 / 1. The record also includes population frequency data and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- rs2544134892
- ClinGen CA396245744
- ClinVar RCV004123914
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available