F11V (p.Phe11Val) variant of PDE6B (P35913)
F11V (p.Phe11Val) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F11V (p.Phe11Val) variant details
- p.Phe11Val
- ExAC rs764396309
- gnomAD rs764396309
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.54
- MetaLR 0.43
- MetaSVM -0.09
- CADD 24.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available