F44L (p.Phe44Leu) variant of RNF207 (RING finger protein 207)
F44L (p.Phe44Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- gnomAD rs1350024016
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available