R3S (p.Arg3Ser) variant of SLC6A19 (Q695T7)
R3S (p.Arg3Ser) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- ExAC rs758143996
- gnomAD rs758143996
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available