R82W (p.Arg82Trp) variant of TULP1 (Tubby-related protein 1)
R82W (p.Arg82Trp) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- cosmic curated COSV57692
- TOPMed rs1307986064
- gnomAD rs1307986064
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.35
- ESM-1b 0.23
- AlphaMissense 0.14
- CADD 19.40
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available