D39N (p.Asp39Asn) variant of LHCGR (P22888)
D39N (p.Asp39Asn) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- cosmic curated COSV10639
- ExAC rs754380548
- TOPMed rs754380548
- gnomAD rs754380548
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.15
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00063)
- Structural context available