T67A (p.Thr67Ala) variant of TULP1 (Tubby-related protein 1)
T67A (p.Thr67Ala) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T67A (p.Thr67Ala) variant details
- p.Thr67Ala
- TOPMed rs1243952652
- gnomAD rs1243952652
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available