K51N (p.Lys51Asn) variant of SIX1 (Homeobox protein SIX1)
K51N (p.Lys51Asn) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- gnomAD 14-60649037-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 27.10
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available