P9L (p.Pro9Leu) variant of RARA (Retinoic acid receptor alpha)
P9L (p.Pro9Leu) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- cosmic curated COSV54196
- ExAC rs762408148
- TOPMed rs762408148
- gnomAD rs762408148
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.52
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.20
- ClinVar: Uncertain significance (Familial meningioma)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available