A64V (p.Ala64Val) variant of TULP1 (Tubby-related protein 1)
A64V (p.Ala64Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs1286215025
- ClinGen CA363784809
- ClinVar RCV001349626
- TOPMed rs1286215025
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available