I105V (p.Ile105Val) variant of CLN3 (Battenin)
I105V (p.Ile105Val) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I105V (p.Ile105Val) variant details
- p.Ile105Val
- rs11552531
- ClinGen CA288730
- cosmic curated COSV10966
- ClinVar RCV000116750
- Benign/Likely benign
- Inborn genetic diseases; not specified; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; Neuronal ceroid lipofusc)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAYA population (allele frequency 0.11)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)