V87D (p.Val87Asp) variant of TULP1 (Tubby-related protein 1)
V87D (p.Val87Asp) 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 0.39 / 1. The record also includes population frequency data and structural context.
V87D (p.Val87Asp) variant details
- p.Val87Asp
- rs773954670
- ClinGen CA3772976
- ClinVar RCV001915513
- ExAC rs773954670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 24.10
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available