V72A (p.Val72Ala) variant of PCDH19 (Protocadherin-19)
V72A (p.Val72Ala) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- ExAC rs776058393
- gnomAD rs776058393
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.37
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- UniProt: Uncertain significance (in DEE9)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available