R110H (p.Arg110His) variant of TULP1 (Tubby-related protein 1)
R110H (p.Arg110His) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R110H (p.Arg110His) variant details
- p.Arg110His
- TOPMed rs1366347954
- gnomAD rs1366347954
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available