D11N (p.Asp11Asn) variant of ATP6V1A (P38606)
D11N (p.Asp11Asn) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- rs746407800
- ClinGen CA2547728
- NCI-TCGA Cosmic COSV5636
- ClinVar RCV003052708
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. (PMID 29668857)