S46N (p.Ser46Asn) variant of SLC18A2 (Q05940)
S46N (p.Ser46Asn) in SLC18A2 (Q05940) 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, published literature, and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- gnomAD 10-117243986-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available