K51Q (p.Lys51Gln) variant of SIX1 (Homeobox protein SIX1)
K51Q (p.Lys51Gln) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K51Q (p.Lys51Gln) variant details
- p.Lys51Gln
- gnomAD 14-60649039-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 25.30
- PolyPhen-2 0.44
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available