P24T (p.Pro24Thr) variant of F13B (Coagulation factor XIII B chain)
P24T (p.Pro24Thr) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- ExAC rs756436929
- TOPMed rs756436929
- gnomAD rs756436929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- CADD 8.19
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00072)
- Structural context available