H18R (p.His18Arg) variant of TULP1 (Tubby-related protein 1)
H18R (p.His18Arg) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- TOPMed rs1761236177
- gnomAD rs1761236177
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available