N112S (p.Asn112Ser) variant of SLC6A4 (P31645)
N112S (p.Asn112Ser) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
N112S (p.Asn112Ser) variant details
- p.Asn112Ser
- ExAC rs758865066
- gnomAD rs758865066
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.73
- MetaSVM 0.62
- CADD 26.00
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available