E21K (p.Glu21Lys) variant of TULP1 (Tubby-related protein 1)
E21K (p.Glu21Lys) 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 0.33 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs970248214
- NCI-TCGA Cosmic COSV5769
- cosmic curated COSV57692
- TOPMed rs970248214
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.14
- ESM-1b 0.07
- AlphaMissense 0.14
- CADD 24.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available