R40S (p.Arg40Ser) variant of TULP1 (Tubby-related protein 1)
R40S (p.Arg40Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- TOPMed rs866656460
- gnomAD rs866656460
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available