S27Y (p.Ser27Tyr) variant of RASA1 (Ras GTPase-activating protein 1)
S27Y (p.Ser27Tyr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27Y (p.Ser27Tyr) variant details
- p.Ser27Tyr
- gnomAD 5-87268531-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.11
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.834
- Literature evidence available