S51Y (p.Ser51Tyr) variant of TULP1 (Tubby-related protein 1)
S51Y (p.Ser51Tyr) 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 0.36 / 1. The record also includes population frequency data and structural context.
S51Y (p.Ser51Tyr) variant details
- p.Ser51Tyr
- rs1323166247
- ClinGen CA363784991
- ClinVar RCV002597575
- gnomAD rs1323166247
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available