R45M (p.Arg45Met) variant of TULP1 (Tubby-related protein 1)
R45M (p.Arg45Met) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R45M (p.Arg45Met) variant details
- p.Arg45Met
- Ensembl rs867611064
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.34
- ESM-1b 0.57
- AlphaMissense 0.17
- CADD 8.28
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available