P13T (p.Pro13Thr) variant of INSR (Insulin receptor)
P13T (p.Pro13Thr) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD rs1968565878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -1.00
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.63
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available