S30N (p.Ser30Asn) variant of SLC6A19 (Q695T7)
S30N (p.Ser30Asn) in SLC6A19 (Q695T7) 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 and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- gnomAD rs1182060613
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available