S7N (p.Ser7Asn) variant of UBQLN2 (Ubiquilin-2)
S7N (p.Ser7Asn) 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 and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- gnomAD rs1412665727
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available