A18S (p.Ala18Ser) variant of RASA1 (Ras GTPase-activating protein 1)
A18S (p.Ala18Ser) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 5-87268503-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.513
- Literature evidence available