S52I (p.Ser52Ile) variant of UBQLN2 (Ubiquilin-2)
S52I (p.Ser52Ile) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S52I (p.Ser52Ile) variant details
- p.Ser52Ile
- gnomAD rs2068629041
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available