S20I (p.Ser20Ile) variant of GABRG2 (P18507)
S20I (p.Ser20Ile) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- rs865862133
- gnomAD 5-162036906-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 7.36
- SIFT 0.42
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available