L27P (p.Leu27Pro) variant of RNF207 (RING finger protein 207)
L27P (p.Leu27Pro) in RNF207 (RING finger protein 207) is a missense change. 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.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- ExAC rs751372134
- TOPMed rs751372134
- gnomAD rs751372134
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.87
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available