S51P (p.Ser51Pro) variant of TULP1 (Tubby-related protein 1)
S51P (p.Ser51Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- Ensembl rs1581745267
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available