P13L (p.Pro13Leu) variant of RASA1 (Ras GTPase-activating protein 1)
P13L (p.Pro13Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD 5-87268489-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.137
- Literature evidence available