P76L (p.Pro76Leu) variant of TULP1 (Tubby-related protein 1)
P76L (p.Pro76Leu) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- gnomAD rs1482609956
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available