P35L (p.Pro35Leu) variant of RNF207 (RING finger protein 207)
P35L (p.Pro35Leu) in RNF207 (RING finger protein 207) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- TOPMed rs919519328
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.83
- CADD 24.10
- PolyPhen-2 0.30
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available