M1T (p.Met1Thr) variant of GABRG2 (P18507)
M1T (p.Met1Thr) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1264939979
- gnomAD 5-162036861-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 11.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available