L8P (p.Leu8Pro) variant of TULP1 (Tubby-related protein 1)
L8P (p.Leu8Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- Ensembl rs2150929261
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.61
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available