M1V (p.Met1Val) variant of CLN3 (Battenin)
M1V (p.Met1Val) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CLN3-related disorder; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs386833708
- ClinGen CA7981128
- ClinVar RCV000664968
- ClinVar RCV001868197
- Pathogenic/Likely pathogenic
- CLN3-related disorder; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.73
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (CLN3-related disorder; Neuronal ceroid lipofuscinosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)