S62G (p.Ser62Gly) variant of KRIT1 (O00522)
S62G (p.Ser62Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- TOPMed rs1445762450
- gnomAD rs1445762450
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available