N43N (p.Asn43Asn) variant of DYSF (Dysferlin)
N43N (p.Asn43Asn) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N43N (p.Asn43Asn) variant details
- p.Asn43Asn
- rs772240035
- gnomAD 2-71480923-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.92
- MetaLR 0.60
- MetaSVM 0.24
- CADD 9.75
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available