T72I (p.Thr72Ile) variant of PCDH15 (Protocadherin-15)
T72I (p.Thr72Ile) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
T72I (p.Thr72Ile) variant details
- p.Thr72Ile
- rs1189952332
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- TOPMed rs1189952332
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- MetaLR 0.35
- MetaSVM -0.36
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)