L92F (p.Leu92Phe) variant of TULP1 (Tubby-related protein 1)
L92F (p.Leu92Phe) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- TOPMed rs1391622608
- gnomAD rs1391622608
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 26.50
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available