R110C (p.Arg110Cys) variant of TULP1 (Tubby-related protein 1)
R110C (p.Arg110Cys) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- TOPMed rs868155975
- gnomAD rs868155975
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.41
- ESM-1b 0.31
- AlphaMissense 0.23
- CADD 27.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available