V110I (p.Val110Ile) variant of CLN3 (Battenin)
V110I (p.Val110Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V110I (p.Val110Ile) variant details
- p.Val110Ile
- rs781534624
- ClinGen CA7980970
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)