R40M (p.Arg40Met) variant of TULP1 (Tubby-related protein 1)
R40M (p.Arg40Met) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R40M (p.Arg40Met) variant details
- p.Arg40Met
- TOPMed rs1209546911
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.17
- ESM-1b 0.56
- AlphaMissense 0.20
- CADD 24.50
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available