A49T (p.Ala49Thr) variant of PCDH19 (Protocadherin-19)
A49T (p.Ala49Thr) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs1405217506
- ClinGen CA414011281
- NCI-TCGA Cosmic COSV5526
- cosmic curated COSV55260
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.80
- SIFT 0.30
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available