G70A (p.Gly70Ala) variant of FSHR (P23945)
G70A (p.Gly70Ala) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- rs148279853
- ClinGen CA1654101
- ClinVar RCV000895288
- 1000Genomes rs148279853
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.81
- CADD 11.20
- PolyPhen-2 0.03
- SIFT 0.79
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available