R42M (p.Arg42Met) variant of TULP1 (Tubby-related protein 1)
R42M (p.Arg42Met) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R42M (p.Arg42Met) variant details
- p.Arg42Met
- Ensembl rs866336086
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- ESM-1b 0.65
- AlphaMissense 0.32
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available