N38S (p.Asn38Ser) variant of GABRA1 (P14867)
N38S (p.Asn38Ser) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs777580346
- gnomAD 5-161850663-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 18.00
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Literature evidence available