A99S (p.Ala99Ser) variant of RRAD (GTP-binding protein RAD)
A99S (p.Ala99Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
A99S (p.Ala99Ser) variant details
- p.Ala99Ser
- rs746648665
- ClinGen CA8098077
- ClinVar RCV004085310
- ExAC rs746648665
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.26
- ESM-1b 0.67
- AlphaMissense 0.09
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0015)
- Structural context available