A13T (p.Ala13Thr) variant of TULP1 (Tubby-related protein 1)
A13T (p.Ala13Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- TOPMed rs1761240798
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 23.60
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available