N120S (p.Asn120Ser) variant of KRIT1 (O00522)
N120S (p.Asn120Ser) 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.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- gnomAD rs1274117057
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.17
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.09
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available