I120T (p.Ile120Thr) variant of PKD1 (Polycystin-1)
I120T (p.Ile120Thr) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I120T (p.Ile120Thr) variant details
- p.Ile120Thr
- rs1555459345
- ClinGen CA394395810
- ClinVar RCV000626722
- ClinVar RCV003162769
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.35
- MetaLR 0.18
- MetaSVM -0.82
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)