P13S (p.Pro13Ser) variant of RASA1 (Ras GTPase-activating protein 1)
P13S (p.Pro13Ser) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs1191737466
- TOPMed rs1191737466
- gnomAD rs1191737466
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.137