R100H (p.Arg100His) variant of TULP1 (Tubby-related protein 1)
R100H (p.Arg100His) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- cosmic curated COSV11405
- ExAC rs776408837
- TOPMed rs776408837
- gnomAD rs776408837
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.32
- ESM-1b 0.05
- AlphaMissense 0.13
- CADD 24.50
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available