S17P (p.Ser17Pro) variant of SLC6A19 (Q695T7)
S17P (p.Ser17Pro) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 5-1201699-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.30
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available