A32S (p.Ala32Ser) variant of RASA1 (Ras GTPase-activating protein 1)
A32S (p.Ala32Ser) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 5-87268545-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0302
- Literature evidence available