K33N (p.Lys33Asn) variant of DYSF (Dysferlin)
K33N (p.Lys33Asn) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- rs756910550
- gnomAD 2-71480890-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.52
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available