A20V (p.Ala20Val) variant of UBQLN2 (Ubiquilin-2)
A20V (p.Ala20Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD X-56563932-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available