P71T (p.Pro71Thr) variant of PCDH15 (Protocadherin-15)
P71T (p.Pro71Thr) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
P71T (p.Pro71Thr) variant details
- p.Pro71Thr
- NCI-TCGA Cosmic COSV5736
- cosmic curated COSV57364
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance