I478T (p.Ile478Thr) variant of FKRP (Q9H9S5)
I478T (p.Ile478Thr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy; not provided; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I478T (p.Ile478Thr) variant details
- p.Ile478Thr
- rs1301397800
- ClinGen CA406497356
- ClinVar RCV000634073
- ClinVar RCV000671168
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; not provided; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.95
- CADD 26.20
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available