T2240A (p.Thr2240Ala) variant of ABCA4 (P78363)
T2240A (p.Thr2240Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; not provided; Age related macula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T2240A (p.Thr2240Ala) variant details
- p.Thr2240Ala
- rs779585931
- ClinGen CA956820
- ClinVar RCV001073878
- ClinVar RCV001371824
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; not provided; Age related macula
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.87
- MetaLR 0.84
- MetaSVM 0.07
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; not provided; Ag)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)