I16T (p.Ile16Thr) variant of PCDH15 (Protocadherin-15)
I16T (p.Ile16Thr) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- rs150248549
- ClinGen CA5506904
- ClinVar RCV003557532
- ESP rs150248549
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- MetaLR 0.10
- MetaSVM -1.04
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)