L3P (p.Leu3Pro) variant of TULP1 (Tubby-related protein 1)
L3P (p.Leu3Pro) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of TULP1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- TOPMed rs1311186934
- gnomAD rs1311186934
- Conflicting interpretations
- TULP1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (TULP1-related disorder; not provided)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available