CATVariant
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SPTBN2 (O15020)
I48V (p.Ile48Val) variant
I48V (p.Ile48Val) variant of SPTBN2 (O15020)
I48V (p.Ile48Val) in SPTBN2 (O15020) is a missense change.
I48V (p.Ile48Val) variant details
p.Ile48Val
TOPMed rs1198850466
Missense
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