A13D (p.Ala13Asp) variant of TULP1 (Tubby-related protein 1)
A13D (p.Ala13Asp) 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 0.41 / 1. The record also includes population frequency data and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- rs187701943
- ClinGen CA3773063
- ClinVar RCV001363348
- 1000Genomes rs187701943
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0053)
- Structural context available