R107Q (p.Arg107Gln) variant of ABCA4 (P78363)
R107Q (p.Arg107Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Severe early-childhood-onset retinal dystrophy; Retinitis pigmento. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- rs759799179
- ClinGen CA958863
- NCI-TCGA Cosmic COSV6467
- Conflicting interpretations
- not provided; Severe early-childhood-onset retinal dystrophy; Retinitis pigmento
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.23
- MetaLR 0.61
- MetaSVM -0.27
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (not provided; Severe early-childhood-onset retinal dystrophy; Re)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)