L37S (p.Leu37Ser) variant of KRIT1 (O00522)
L37S (p.Leu37Ser) in KRIT1 (O00522) is a missense change. 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.
L37S (p.Leu37Ser) variant details
- p.Leu37Ser
- ExAC rs757766540
- gnomAD rs757766540
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.55
- CADD 27.10
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available