I32V (p.Ile32Val) variant of UBQLN2 (Ubiquilin-2)
I32V (p.Ile32Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- gnomAD X-56563967-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.00
- CADD 20.30
- PolyPhen-2 0.35
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available