A18S (p.Ala18Ser) variant of UBQLN2 (Ubiquilin-2)
A18S (p.Ala18Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD X-56563925-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.09
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.84
- Population evidence available
- Structural context available
- Literature evidence available