R66L (p.Arg66Leu) variant of TULP1 (Tubby-related protein 1)
R66L (p.Arg66Leu) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R66L (p.Arg66Leu) variant details
- p.Arg66Leu
- gnomAD rs1311597381
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 20.40
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available