N15T (p.Asn15Thr) variant of PDE6B (P35913)
N15T (p.Asn15Thr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N15T (p.Asn15Thr) variant details
- p.Asn15Thr
- ExAC rs765828124
- gnomAD rs765828124
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.47
- MetaLR 0.49
- MetaSVM 0.02
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available