S27C (p.Ser27Cys) variant of H6PD (O95479)
S27C (p.Ser27Cys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- gnomAD 1-9245014-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.37
- MetaLR 0.41
- MetaSVM -0.23
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available