A23V (p.Ala23Val) variant of RASA1 (Ras GTPase-activating protein 1)
A23V (p.Ala23Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 5-87268519-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.16
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.269
- Literature evidence available