A83V (p.Ala83Val) variant of TULP1 (Tubby-related protein 1)
A83V (p.Ala83Val) 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 0.16 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- rs765249939
- ClinGen CA363784071
- cosmic curated COSV57692
- ClinVar RCV001243084
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available