P39L (p.Pro39Leu) variant of RASA1 (Ras GTPase-activating protein 1)
P39L (p.Pro39Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs760851896
- ClinGen CA3335331
- ClinVar RCV003761145
- ClinVar RCV004985583
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.33
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0088
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)