A2T (p.Ala2Thr) variant of FSHR (P23945)
A2T (p.Ala2Thr) in FSHR (P23945) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- NCI-TCGA Cosmic COSV5862
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.11
- MetaLR 0.27
- MetaSVM -0.75
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available