S171F (p.Ser171Phe) variant of CLN3 (Battenin)
S171F (p.Ser171Phe) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S171F (p.Ser171Phe) variant details
- p.Ser171Phe
- rs1401497994
- ClinGen CA395345652
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscin
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa; Neuronal ceroid lipofuscinosis; Neuronal c)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)