G9V (p.Gly9Val) variant of UBQLN2 (Ubiquilin-2)
G9V (p.Gly9Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD rs2068628337
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available