A7T (p.Ala7Thr) variant of PKD1 (Polycystin-1)
A7T (p.Ala7Thr) in PKD1 (Polycystin-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 0.26 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs1401224165
- ClinGen CA394283245
- ClinVar RCV002306080
- gnomAD rs1401224165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.02
- CADD 20.50
- PolyPhen-2 0.24
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available