R127C (p.Arg127Cys) variant of SPTB (Spectrin beta chain, erythrocytic)

Name: SPTB R127C (p.Arg127Cys) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-29
License: https://catvariant.com/terms-of-use

R127C (p.Arg127Cys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.

R127C (p.Arg127Cys) variant details

p.Arg127Cys
ESP rs371715699
ExAC rs371715699
TOPMed rs371715699
gnomAD rs371715699
Missense
Variant Prioritization Score for Impact Estimate 0.581
MetaLR 0.39
MetaSVM -0.16
CADD 26.70
PolyPhen-2 0.99
SIFT 0.00
Population evidence available