P39T (p.Pro39Thr) variant of RASA1 (Ras GTPase-activating protein 1)
P39T (p.Pro39Thr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs772125504
- ClinGen CA3335330
- ClinVar RCV004438555
- ExAC rs772125504
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0088