R42G (p.Arg42Gly) variant of TULP1 (Tubby-related protein 1)
R42G (p.Arg42Gly) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- ExAC rs778759254
- TOPMed rs778759254
- gnomAD rs778759254
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 28.00
- PolyPhen-2 0.81
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available