P84R (p.Pro84Arg) variant of TULP1 (Tubby-related protein 1)
P84R (p.Pro84Arg) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P84R (p.Pro84Arg) variant details
- p.Pro84Arg
- gnomAD rs1378475902
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.00
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available