P25R (p.Pro25Arg) variant of TULP1 (Tubby-related protein 1)
P25R (p.Pro25Arg) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- ExAC rs761981623
- TOPMed rs761981623
- gnomAD rs761981623
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.20
- PolyPhen-2 0.33
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available