R103G (p.Arg103Gly) variant of TULP1 (Tubby-related protein 1)
R103G (p.Arg103Gly) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- ExAC rs777941360
- TOPMed rs777941360
- gnomAD rs777941360
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available