A4T (p.Ala4Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A4T (p.Ala4Thr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- ExAC rs781109820
- gnomAD rs781109820
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.182