P71T (p.Pro71Thr) variant of F5 (Coagulation factor V)
P71T (p.Pro71Thr) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P71T (p.Pro71Thr) variant details
- p.Pro71Thr
- rs751942054
- ClinGen CA1234701
- ClinVar RCV002684283
- ExAC rs751942054
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.40
- CADD 11.30
- PolyPhen-2 0.34
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)