A36T (p.Ala36Thr) variant of TULP1 (Tubby-related protein 1)
A36T (p.Ala36Thr) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- cosmic curated COSV10721
- TOPMed rs891678786
- gnomAD rs891678786
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.60
- PolyPhen-2 0.76
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available