P2S (p.Pro2Ser) variant of TULP1 (Tubby-related protein 1)
P2S (p.Pro2Ser) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- Ensembl rs1761242298
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- ESM-1b 0.00
- AlphaMissense 0.43
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available