C53R (p.Cys53Arg) variant of TULP1 (Tubby-related protein 1)
C53R (p.Cys53Arg) 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 0.13 / 1. The record also includes population frequency data and structural context.
C53R (p.Cys53Arg) variant details
- p.Cys53Arg
- rs2150928757
- ClinGen CA363784971
- ClinVar RCV001913319
- Ensembl rs2150928757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 4.27
- PolyPhen-2 0.02
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available