A18T (p.Ala18Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A18T (p.Ala18Thr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD rs1300904136
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.513