Q21L (p.Gln21Leu) variant of GABRG2 (P18507)
Q21L (p.Gln21Leu) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q21L (p.Gln21Leu) variant details
- p.Gln21Leu
- rs1212308439
- gnomAD 5-162036858-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 13.70
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available