P49P (p.Pro49Pro) variant of UBQLN2 (Ubiquilin-2)
P49P (p.Pro49Pro) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P49P (p.Pro49Pro) variant details
- p.Pro49Pro
- rs1254959794
- gnomAD X-56564020-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.38
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available