E19K (p.Glu19Lys) variant of TULP1 (Tubby-related protein 1)
E19K (p.Glu19Lys) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs367559991
- ClinGen CA3773043
- ClinVar RCV001938137
- ESP rs367559991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.35
- ESM-1b 0.61
- AlphaMissense 0.13
- CADD 26.80
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available