L17Q (p.Leu17Gln) variant of LHCGR (P22888)
L17Q (p.Leu17Gln) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- cosmic curated COSV99683
- gnomAD rs1244697101
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.38
- CADD 16.80
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available