S13N (p.Ser13Asn) variant of POR (NADPH--cytochrome P450 reductase)
S13N (p.Ser13Asn) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- rs1554553330
- gnomAD 7-75954027-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- CADD 6.57
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available