A36S (p.Ala36Ser) variant of TULP1 (Tubby-related protein 1)
A36S (p.Ala36Ser) 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 0.18 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs891678786
- ClinGen CA137293226
- ClinVar RCV001346489
- TOPMed rs891678786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.40
- PolyPhen-2 0.85
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available