N78H (p.Asn78His) variant of ABCA4 (P78363)
N78H (p.Asn78His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
N78H (p.Asn78His) variant details
- p.Asn78His
- rs148529158
- ClinGen CA958892
- ClinVar RCV002750530
- ESP rs148529158
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.63
- MetaLR 0.95
- MetaSVM 1.07
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available