T72N (p.Thr72Asn) variant of PCDH15 (Protocadherin-15)
T72N (p.Thr72Asn) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
T72N (p.Thr72Asn) variant details
- p.Thr72Asn
- rs1189952332
- ClinGen CA376540629
- ClinVar RCV001363569
- ClinVar RCV002476659
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.35
- MetaSVM -0.43
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)