L23P (p.Leu23Pro) variant of RNF207 (RING finger protein 207)
L23P (p.Leu23Pro) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- TOPMed rs1421131881
- gnomAD rs1421131881
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available