G13A (p.Gly13Ala) variant of HRAS (GTPase HRas)
G13A (p.Gly13Ala) in HRAS (GTPase HRas) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SFM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- Ensembl rs104894226
- Pathogenic
- in SFM
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.56
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.56
- CADD 23.40
- PolyPhen-2 1.00
- EBI: Pathogenic (in SFM)
- UniProt: Pathogenic (in SFM)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available