P31H (p.Pro31His) variant of RASA1 (Ras GTPase-activating protein 1)
P31H (p.Pro31His) in RASA1 (Ras GTPase-activating protein 1) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- TOPMed rs1484820367
- gnomAD rs1484820367
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.17
- AlphaMissense 0.20
- MetaLR 0.20
- MetaSVM -0.94
- CADD 17.60
- PolyPhen-2 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0567