V11M (p.Val11Met) variant of TULP1 (Tubby-related protein 1)
V11M (p.Val11Met) 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 0.43 / 1. The record also includes structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- rs145272099
- ClinGen CA363785434
- ClinVar RCV002895412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- ESM-1b 0.00
- AlphaMissense 0.79
- MetaLR 0.62
- MetaSVM 0.33
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available