P43L (p.Pro43Leu) variant of RASA1 (Ras GTPase-activating protein 1)
P43L (p.Pro43Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- gnomAD rs1466107957
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.27
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.35