T46M (p.Thr46Met) variant of TULP1 (Tubby-related protein 1)
T46M (p.Thr46Met) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs200344441
- ClinGen CA137293164
- cosmic curated COSV57692
- ClinVar RCV002021865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.40
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available