N37del (p.Asn37del) variant of SLC6A19 (Q695T7)

Name: SLC6A19 N37del (p.Asn37del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

N37del (p.Asn37del) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.

N37del (p.Asn37del) variant details

rs769995015
gnomAD 5-1201756-GACA-G
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.672
CADD 20.10
Most common in the East Asian population (allele frequency 7.6e-05)
Structural context available
Literature evidence available