S27P (p.Ser27Pro) variant of H6PD (O95479)
S27P (p.Ser27Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 1-9245013-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.44
- MetaLR 0.42
- MetaSVM -0.17
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available