S46T (p.Ser46Thr) variant of PDE6B (P35913)
S46T (p.Ser46Thr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S46T (p.Ser46Thr) variant details
- p.Ser46Thr
- ExAC rs777494853
- gnomAD rs777494853
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.01
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available