F6L (p.Phe6Leu) variant of RNF207 (RING finger protein 207)
F6L (p.Phe6Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
F6L (p.Phe6Leu) variant details
- p.Phe6Leu
- ExAC rs751553548
- gnomAD rs751553548
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available