A21T (p.Ala21Thr) variant of FGFR1 (P11362)
A21T (p.Ala21Thr) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, 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 0.52 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs1383262590
- ClinGen CA370767174
- cosmic curated COSV58328
- ClinVar RCV001762937
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.36
- CADD 22.00
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available