P17R (p.Pro17Arg) variant of UBQLN2 (Ubiquilin-2)
P17R (p.Pro17Arg) 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, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD X-56563923-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available