P31A (p.Pro31Ala) variant of RASA1 (Ras GTPase-activating protein 1)
P31A (p.Pro31Ala) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- gnomAD 5-87268542-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.12
- CADD 8.39
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0567
- Literature evidence available