P35R (p.Pro35Arg) variant of TULP1 (Tubby-related protein 1)
P35R (p.Pro35Arg) 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.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- TOPMed rs1236793323
- gnomAD rs1236793323
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.90
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available