P52A (p.Pro52Ala) variant of TULP1 (Tubby-related protein 1)
P52A (p.Pro52Ala) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- Ensembl rs1761222899
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.80
- PolyPhen-2 0.14
- SIFT 0.07
- Population evidence available
- Structural context available