P43A (p.Pro43Ala) variant of RASA1 (Ras GTPase-activating protein 1)
P43A (p.Pro43Ala) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- gnomAD rs1268669506
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.35