E26A (p.Glu26Ala) variant of TULP1 (Tubby-related protein 1)
E26A (p.Glu26Ala) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E26A (p.Glu26Ala) variant details
- p.Glu26Ala
- TOPMed rs1390830516
- gnomAD rs1390830516
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.80
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available