V87A (p.Val87Ala) variant of TULP1 (Tubby-related protein 1)
V87A (p.Val87Ala) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V87A (p.Val87Ala) variant details
- p.Val87Ala
- ExAC rs773954670
- gnomAD rs773954670
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available