S53L (p.Ser53Leu) variant of UBQLN2 (Ubiquilin-2)
S53L (p.Ser53Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- NCI-TCGA Cosmic COSV5773
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.45
- CADD 24.30
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available