A20S (p.Ala20Ser) variant of UBQLN2 (Ubiquilin-2)
A20S (p.Ala20Ser) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- ExAC rs777013943
- TOPMed rs777013943
- gnomAD rs777013943
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available