T42A (p.Thr42Ala) variant of PCDH15 (Protocadherin-15)
T42A (p.Thr42Ala) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- TOPMed rs1363040684
- gnomAD rs1363040684
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- MetaLR 0.24
- MetaSVM -0.48
- CADD 23.40
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)