R30S (p.Arg30Ser) variant of TULP1 (Tubby-related protein 1)
R30S (p.Arg30Ser) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- rs1761235088
- ClinGen CA363785271
- ClinVar RCV001238226
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.50
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available