R2106H (p.Arg2106His) variant of ABCA4 (P78363)
R2106H (p.Arg2106His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa; Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R2106H (p.Arg2106His) variant details
- p.Arg2106His
- rs1057520213
- ClinGen CA16044110
- NCI-TCGA Cosmic COSV6467
- cosmic curated COSV64678
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa; Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa; Cone-rod dystrophy 3)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)