S7I (p.Ser7Ile) variant of UBQLN2 (Ubiquilin-2)
S7I (p.Ser7Ile) 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.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- gnomAD X-56563893-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available