E20K (p.Glu20Lys) variant of TULP1 (Tubby-related protein 1)
E20K (p.Glu20Lys) in TULP1 (Tubby-related protein 1) 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 0.46 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs760988046
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- ExAC rs760988046
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.35
- ESM-1b 0.38
- AlphaMissense 0.14
- CADD 26.50
- PolyPhen-2 0.27
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available