K53R (p.Lys53Arg) variant of SIX1 (Homeobox protein SIX1)
K53R (p.Lys53Arg) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- gnomAD 14-60649032-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available