F106S (p.Phe106Ser) variant of TULP1 (Tubby-related protein 1)
F106S (p.Phe106Ser) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F106S (p.Phe106Ser) variant details
- p.Phe106Ser
- cosmic curated COSV10721
- TOPMed rs1369735098
- gnomAD rs1369735098
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.67
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available