P52L (p.Pro52Leu) variant of RIT1 (GTP-binding protein Rit1)
P52L (p.Pro52Leu) in RIT1 (GTP-binding protein Rit1) 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 0.85 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs1673568262
- ClinGen CA342775960
- cosmic curated COSV64167
- ClinVar RCV004517223
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available