D124A (p.Asp124Ala) variant of TULP1 (Tubby-related protein 1)
D124A (p.Asp124Ala) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D124A (p.Asp124Ala) variant details
- p.Asp124Ala
- 1000Genomes rs199651570
- TOPMed rs199651570
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available