K50N (p.Lys50Asn) variant of KRIT1 (O00522)
K50N (p.Lys50Asn) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- cosmic curated COSV10968
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available