P13Q (p.Pro13Gln) variant of RASA1 (Ras GTPase-activating protein 1)
P13Q (p.Pro13Gln) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- gnomAD 5-87268489-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.137
- Literature evidence available