L30P (p.Leu30Pro) variant of GRIA1 (Glutamate receptor 1)
L30P (p.Leu30Pro) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs759519627
- gnomAD 5-153492296-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 17.10
- SIFT 0.23
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Literature evidence available