A6T (p.Ala6Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A6T (p.Ala6Thr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 5-87268467-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.26
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.853
- Literature evidence available