P17A (p.Pro17Ala) variant of UBQLN2 (Ubiquilin-2)
P17A (p.Pro17Ala) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- gnomAD rs1378794338
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.01
- AlphaMissense 0.05
- MetaLR 0.05
- MetaSVM -1.07
- CADD 16.90
- PolyPhen-2 0.01
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available