P8L (p.Pro8Leu) variant of RNF207 (RING finger protein 207)
P8L (p.Pro8Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1238732878
- gnomAD rs1238732878
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available