D114N (p.Asp114Asn) variant of CNGA1 (P29973)
D114N (p.Asp114Asn) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Retinitis pigmentosa; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D114N (p.Asp114Asn) variant details
- p.Asp114Asn
- rs28642966
- ClinGen CA179889
- cosmic curated COSV62052
- ClinVar RCV000153037
- Benign
- Retinitis pigmentosa; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.95
- CADD 17.40
- PolyPhen-2 0.00
- ClinVar: Benign (Retinitis pigmentosa; not specified; not provided)
- EBI: Benign (in dbSNP:rs28642966)
- UniProt: Benign (in dbSNP:rs28642966)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. (PMID 1379636)
- Cited in: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis… (PMID 7479749)