S48N (p.Ser48Asn) variant of SIX1 (Homeobox protein SIX1)
S48N (p.Ser48Asn) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- ExAC rs774637636
- gnomAD rs774637636
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0256