A97D (p.Ala97Asp) variant of TULP1 (Tubby-related protein 1)
A97D (p.Ala97Asp) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A97D (p.Ala97Asp) variant details
- p.Ala97Asp
- gnomAD rs1162169720
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 25.50
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available