Q214H (p.Gln214His) variant of SOS1 (Son of sevenless homolog 1)
Q214H (p.Gln214His) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility with azoospermia or oligozoospermia due to single gene mutation. 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.
Q214H (p.Gln214His) variant details
- p.Gln214His
- rs886041696
- ClinGen CA346373072
- ClinVar RCV003991599
- ClinGen CA10602857
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.31
- CADD 21.10
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available