S62L (p.Ser62Leu) variant of UBQLN2 (Ubiquilin-2)
S62L (p.Ser62Leu) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- NCI-TCGA Cosmic COSV5774
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.62
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available