S51F (p.Ser51Phe) variant of CLN3 (Battenin)
S51F (p.Ser51Phe) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.65 / 1. The record also includes population frequency data and published literature.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- rs780151271
- ClinGen CA7981042
- ClinVar RCV000594773
- ClinVar RCV000765284
- Uncertain significance
- not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)