N34S (p.Asn34Ser) variant of SLC18A2 (Q05940)
N34S (p.Asn34Ser) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- gnomAD 10-117241794-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.70
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available