V63L (p.Val63Leu) variant of PDE6B (P35913)
V63L (p.Val63Leu) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V63L (p.Val63Leu) variant details
- p.Val63Leu
- rs2474073447
- ClinGen CA355906337
- ClinVar RCV003709869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.96
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available