P70Q (p.Pro70Gln) variant of TULP1 (Tubby-related protein 1)
P70Q (p.Pro70Gln) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P70Q (p.Pro70Gln) variant details
- p.Pro70Gln
- Ensembl rs1190585832
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available