G24A (p.Gly24Ala) variant of PDE6B (P35913)
G24A (p.Gly24Ala) 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 0.14 / 1. The record also includes population frequency data and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- rs1339216331
- ClinGen CA355906072
- ClinVar RCV001226474
- TOPMed rs1339216331
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -1.01
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available