R12P (p.Arg12Pro) variant of UBQLN2 (Ubiquilin-2)
R12P (p.Arg12Pro) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- gnomAD X-56563908-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.04
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.27
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available