S22I (p.Ser22Ile) variant of KRIT1 (O00522)
S22I (p.Ser22Ile) in KRIT1 (O00522) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56058
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.45
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available