M1T (p.Met1Thr) variant of CLN3 (Battenin)
M1T (p.Met1Thr) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs777625354
- ClinGen CA7981127
- ClinVar RCV000409421
- ClinVar RCV003333982
- Conflicting interpretations
- not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid li)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available