R45S (p.Arg45Ser) variant of TULP1 (Tubby-related protein 1)
R45S (p.Arg45Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- rs1237699541
- ClinGen CA363785062
- ClinVar RCV001318058
- TOPMed rs1237699541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 17.20
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.5e-05)
- Structural context available