P130S (p.Pro130Ser) variant of KRIT1 (O00522)
P130S (p.Pro130Ser) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P130S (p.Pro130Ser) variant details
- p.Pro130Ser
- gnomAD rs776803161
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.70
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available