P42T (p.Pro42Thr) variant of PDE6B (P35913)
P42T (p.Pro42Thr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- gnomAD rs949398735
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.03
- CADD 0.39
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available