R103W (p.Arg103Trp) variant of TULP1 (Tubby-related protein 1)
R103W (p.Arg103Trp) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R103W (p.Arg103Trp) variant details
- p.Arg103Trp
- cosmic curated COSV10456
- ExAC rs777941360
- TOPMed rs777941360
- gnomAD rs777941360
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 28.10
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available