S57P (p.Ser57Pro) variant of TULP1 (Tubby-related protein 1)
S57P (p.Ser57Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- Ensembl rs2150928751
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available