A55S (p.Ala55Ser) variant of RRAD (GTP-binding protein RAD)
A55S (p.Ala55Ser) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- TOPMed rs1035295744
- gnomAD rs1035295744
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 4.84
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available