N40T (p.Asn40Thr) variant of DYSF (Dysferlin)
N40T (p.Asn40Thr) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N40T (p.Asn40Thr) variant details
- p.Asn40Thr
- rs746833738
- gnomAD 2-71480910-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available