P43S (p.Pro43Ser) variant of RASA1 (Ras GTPase-activating protein 1)
P43S (p.Pro43Ser) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- gnomAD 5-87268578-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.35
- Literature evidence available