E122V (p.Glu122Val) variant of TULP1 (Tubby-related protein 1)
E122V (p.Glu122Val) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E122V (p.Glu122Val) variant details
- p.Glu122Val
- ExAC rs750582036
- gnomAD rs750582036
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available