A6S (p.Ala6Ser) variant of RASA1 (Ras GTPase-activating protein 1)
A6S (p.Ala6Ser) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 5-87268467-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.24
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.853
- Literature evidence available