N31K (p.Asn31Lys) variant of PDE6B (P35913)
N31K (p.Asn31Lys) 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 0.08 / 1. The record also includes population frequency data and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- rs770449748
- ClinGen CA2793839
- ClinVar RCV001881415
- ExAC rs770449748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0813
- REVEL 0.02
- MetaLR 0.15
- MetaSVM -0.97
- CADD 4.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available