P74A (p.Pro74Ala) variant of TULP1 (Tubby-related protein 1)
P74A (p.Pro74Ala) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P74A (p.Pro74Ala) variant details
- p.Pro74Ala
- rs200713417
- ClinGen CA137292784
- ClinVar RCV001930323
- 1000Genomes rs200713417
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available