P16A (p.Pro16Ala) variant of PDE6B (P35913)
P16A (p.Pro16Ala) 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 0.48 / 1. The record also includes population frequency data and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs1360629462
- ClinGen CA355905968
- ClinVar RCV002023507
- TOPMed rs1360629462
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.35
- MetaLR 0.37
- MetaSVM -0.26
- CADD 22.70
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available