E123K (p.Glu123Lys) variant of CNGA1 (P29973)
E123K (p.Glu123Lys) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E123K (p.Glu123Lys) variant details
- p.Glu123Lys
- rs539600817
- ClinGen CA2911307
- cosmic curated COSV62054
- ClinVar RCV000348268
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)