Q39R (p.Gln39Arg) variant of TULP1 (Tubby-related protein 1)
Q39R (p.Gln39Arg) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- TOPMed rs1487706110
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available