P2R (p.Pro2Arg) variant of TULP1 (Tubby-related protein 1)
P2R (p.Pro2Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- gnomAD rs1174952138
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available