V167D (p.Val167Asp) variant of CLN3 (Battenin)
V167D (p.Val167Asp) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V167D (p.Val167Asp) variant details
- p.Val167Asp
- rs1418465028
- ClinGen CA395345678
- ClinVar RCV001891503
- ClinVar RCV005016769
- Likely pathogenic
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 28.10
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)