A11P (p.Ala11Pro) variant of HRAS (GTPase HRas)
A11P (p.Ala11Pro) in HRAS (GTPase HRas) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- ExAC rs727504496
- TOPMed rs727504496
- gnomAD rs727504496
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.48
- AlphaMissense 0.88
- MetaLR 0.31
- MetaSVM -0.46
- CADD 20.80
- PolyPhen-2 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available