Q21P (p.Gln21Pro) variant of UBQLN2 (Ubiquilin-2)
Q21P (p.Gln21Pro) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q21P (p.Gln21Pro) variant details
- p.Gln21Pro
- gnomAD X-56563935-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.04
- CADD 8.99
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available