G314S (p.Gly314Ser) variant of RPGR (Q92834)
G314S (p.Gly314Ser) in RPGR (Q92834) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G314S (p.Gly314Ser) variant details
- p.Gly314Ser
- cosmic curated COSV58836
- TOPMed rs2067497906
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available