A24P (p.Ala24Pro) variant of UBQLN2 (Ubiquilin-2)
A24P (p.Ala24Pro) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A24P (p.Ala24Pro) variant details
- p.Ala24Pro
- gnomAD X-56563943-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.02
- CADD 7.15
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available