A25T (p.Ala25Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A25T (p.Ala25Thr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- Ensembl rs1753666743
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.948