P4T (p.Pro4Thr) variant of KRIT1 (O00522)
P4T (p.Pro4Thr) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD rs878871066
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.23
- CADD 22.20
- PolyPhen-2 0.15
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 0.00053)
- Structural context available