P39H (p.Pro39His) variant of RASA1 (Ras GTPase-activating protein 1)
P39H (p.Pro39His) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P39H (p.Pro39His) variant details
- p.Pro39His
- ExAC rs760851896
- gnomAD rs760851896
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.57
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0088