K59N (p.Lys59Asn) variant of CSRP3 (P50461)
K59N (p.Lys59Asn) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- gnomAD 11-19188240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.69
- MetaLR 0.84
- MetaSVM 0.77
- CADD 21.80
- PolyPhen-2 0.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available